BAIAP2
BAR/IMD domain containing adaptor protein 2
Summary
The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2509809363 | 17:79,009,101 | T/A | — | uncertain significance |
| rs8073224 | 17:79,009,153 | T/C | — | uncertain significance |
| rs4969239 | 17:79,010,544 | A/G | regulatory region variant | — |
| rs28585511 | 17:79,010,609 | A/G | — | — |
| rs9913477 | 17:79,015,698 | A/C | — | — |
| rs7502931 | 17:79,018,677 | A/G | regulatory region variant | — |
| rs8067235 | 17:79,024,637 | G/A | regulatory region variant | — |
| rs8079626 | 17:79,026,872 | A/G | regulatory region variant | — |
| rs3934492 | 17:79,033,964 | C/G | intron variant | — |
| rs9901648 | 17:79,035,708 | G/T | — | — |
| rs8079781 | 17:79,050,148 | C/T | intron variant | — |
| rs4969373 | 17:79,050,473 | A/G | intron variant | — |
| rs1417487832 | 17:79,058,674 | A/G | — | uncertain significance |
| rs373474550 | 17:79,059,504 | G/T | — | uncertain significance |
| rs7210438 | 17:79,060,180 | C/T | intron variant | — |
| rs561571272 | 17:79,060,280 | A/G | — | uncertain significance |
| rs35895585 | 17:79,060,353 | T/A | — | benign |
| rs4969385 | 17:79,068,890 | C/T | regulatory region variant | — |
| rs72634327 | 17:79,072,011 | A/G | — | uncertain significance |
| rs9319615 | 17:79,072,594 | A/C | intron variant | — |
| rs7502214 | 17:79,073,182 | G/T | — | — |
| rs144930503 | 17:79,073,757 | C/T | — | likely benign |
| rs146015006 | 17:79,073,793 | C/T | — | benign |
| rs111402402 | 17:79,073,850 | G/A | — | benign |
| rs141445738 | 17:79,073,862 | C/T | — | benign |
| rs75955278 | 17:79,077,293 | C/T | — | benign |
| rs369167632 | 17:79,077,330 | C/T | — | uncertain significance |
| rs772891818 | 17:79,077,378 | C/T | — | uncertain significance |
| rs758866130 | 17:79,077,410 | G/A | — | uncertain significance |
| rs141395686 | 17:79,077,413 | G/A | — | uncertain significance |
| rs776209043 | 17:79,077,731 | C/A | — | uncertain significance |
| rs772657995 | 17:79,077,742 | C/T | — | likely benign |
| rs141436998 | 17:79,077,746 | G/A | — | uncertain significance |
| rs2511136368 | 17:79,077,771 | A/G | — | uncertain significance |
| rs746958217 | 17:79,077,776 | C/T | — | uncertain significance |
| rs371249844 | 17:79,077,816 | C/G | — | uncertain significance |
| rs1406617262 | 17:79,077,828 | C/T | — | uncertain significance |
| rs2511138519 | 17:79,077,839 | C/T | — | uncertain significance |
| rs1568178905 | 17:79,077,881 | G/A | — | uncertain significance |
| rs1237939311 | 17:79,077,900 | A/G | — | uncertain significance |
| rs377734827 | 17:79,078,323 | A/G | — | uncertain significance |
| rs35146688 | 17:79,078,423 | C/T | — | benign |
| rs1357583981 | 17:79,078,450 | C/G | — | likely benign |
| rs376793828 | 17:79,079,871 | C/T | — | likely benign |
| rs551077903 | 17:79,079,942 | A/G | — | uncertain significance |
| rs1598813696 | 17:79,079,956 | G/A | — | likely benign |
| rs1255719699 | 17:79,080,550 | A/G | — | uncertain significance |
| rs115733273 | 17:79,080,554 | A/G | — | benign |
| rs143678625 | 17:79,080,597 | C/A | — | uncertain significance |
| rs2511238921 | 17:79,080,619 | A/G | — | uncertain significance |
| rs922220997 | 17:79,080,634 | G/A | — | uncertain significance |
| rs779054777 | 17:79,080,645 | G/A | — | likely benign |
| rs7502590 | 17:79,082,081 | A/G | intron variant | — |
| rs11664 | 17:79,082,862 | G/A | — | uncertain significance |
| rs4072588 | 17:79,084,072 | G/T | — | uncertain significance |
| rs56084168 | 17:79,084,574 | C/T | regulatory region variant | — |
| rs7503580 | 17:79,087,036 | C/T | downstream gene variant | — |
| rs760359913 | 17:79,089,586 | G/A | — | uncertain significance |
| rs117102084 | 17:79,089,600 | G/A | — | benign |
| rs755574488 | 17:79,090,071 | G/A | — | uncertain significance |
| rs746339592 | 17:79,090,073 | G/C | — | uncertain significance |
| rs776985011 | 17:79,090,085 | C/T | — | likely benign |
| rs143905176 | 17:79,090,097 | G/A | — | uncertain significance |
| rs62073016 | 17:79,090,198 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.